Details of Disease

Disease Name

Hypercholesterolemia, familial, 1

FHC; low density lipoprotein cholesterol level quantitative trait locus 2; hypercholesterolemia, susceptibility to; hyper-low-density-lipoproteinemia; hyperlipoproteinemia, type 2; LDL receptor disorder; hypercholesterolemia, familial, modifier of; hypercholesterolemia, familial, 1; LDL cholesterol level QTL2; hyperlipoproteinemia, type 2A; hypercholesterolemia, familial; hypercholesterolemic xanthomatosis, familial; FHCL1; hypercholesterolemia, familial, due to ldlr defect, modifier of

Disease Hierarchy

DISC06IX: Familial hypercholesterolemia

DISU411W: Hypercholesterolemia, familial, 1

Disease Identifiers

MONDO ID

MONDO_0007750

MESH ID

D006938

UMLS CUI

C0745103

OMIM ID

143890

MedGen ID

152875

SNOMED CT ID

397915002

General Information of Disease (ID: DISU411W)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 38 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA1	TTJW1GN	Limited	Genetic Variation	[1]
HMGCR	TTPADOQ	Limited	Genetic Variation	[2]
LIPA	TTS8T1M	Limited	Biomarker	[3]
ADH1A	TT5AHZ0	moderate	Genetic Variation	[4]
KIR2DL1	TT4UXPE	moderate	Biomarker	[5]
ABCG5	TTKZ7WY	Strong	Biomarker	[6]
ALOX5AP	TTDMBF5	Strong	Genetic Variation	[7]
ANGPTL3	TT59GO7	Strong	Biomarker	[8]
APOA1	TT5S8DR	Strong	Biomarker	[9]
APOA2	TTGQA9W	Strong	Genetic Variation	[10]
APOC3	TTXOZQ1	Strong	Biomarker	[11]
APOL1	TTDB8PW	Strong	Altered Expression	[12]
ATP2A2	TTE6THL	Strong	Biomarker	[13]
CAD	TT2YT1K	Strong	Biomarker	[14]
CCR4	TT7HQD0	Strong	Biomarker	[15]
CETP	TTFQAYR	Strong	Biomarker	[16]
CXCR1	TTMWT8Z	Strong	Altered Expression	[15]
EPHX2	TT7WVHI	Strong	Genetic Variation	[17]
GHR	TTHJWYD	Strong	Genetic Variation	[18]
HPD	TT8DSFC	Strong	Biomarker	[19]
LIPG	TTHSZXO	Strong	Genetic Variation	[20]
LPL	TTOF3WZ	Strong	Biomarker	[20]
MYH2	TTBIL13	Strong	Genetic Variation	[21]
MYH7	TTNIMDP	Strong	Genetic Variation	[22]
NPC1L1	TTPD1CN	Strong	Genetic Variation	[23]
PLA2G7	TTDNFMT	Strong	Altered Expression	[24]
PLN	TTMCVJF	Strong	Biomarker	[25]
PON1	TT9LX82	Strong	Genetic Variation	[26]
POR	TTOQ9GZ	Strong	Genetic Variation	[27]
SCN8A	TT54ERL	Strong	Biomarker	[28]
TNNI3	TTNLDK6	Strong	Genetic Variation	[29]
TNNT2	TTWAS18	Strong	Genetic Variation	[30]
ADRB3	TTMXGCW	Definitive	Genetic Variation	[31]
APOA4	TTNC3WS	Definitive	Biomarker	[11]
APOH	TT2OUI9	Definitive	Genetic Variation	[32]
GSS	TTVEWR4	Definitive	Biomarker	[33]
LCAT	TTGZ91P	Definitive	Altered Expression	[34]
LDLR	TTH0DUS	Definitive	Semidominant	[35]
------------------------------------------------------------------------------------


⏷ Show the Full List of 38 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA2	DTJ4NEG	Strong	Altered Expression	[36]
SLC29A3	DTZAWTH	Strong	Genetic Variation	[37]
------------------------------------------------------------------------------------

This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
EPHX2	DER5U19	No Known	Autosomal dominant	[38]
PON2	DEHJU7E	Disputed	Genetic Variation	[39]
MARS1	DE0K52I	moderate	Biomarker	[40]
BAAT	DERA3OF	Strong	Genetic Variation	[41]
CHDH	DEAHED0	Strong	Biomarker	[42]
CYP7A1	DEDZRQ1	Strong	Genetic Variation	[43]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DME(s)

This Disease Is Related to 43 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPHX2	OTPTRCNW	No Known	Autosomal dominant	[38]
SLA2	OTNVE666	moderate	Biomarker	[40]
ABCG8	OTIJ76XW	Strong	Biomarker	[44]
ACTC1	OTJU04B1	Strong	Genetic Variation	[45]
ADPRH	OTLJ5511	Strong	Genetic Variation	[46]
AGO2	OT4JY32Q	Strong	Biomarker	[19]
CCN6	OTRFHQ2Z	Strong	Biomarker	[19]
CELSR2	OTON6JSZ	Strong	Genetic Variation	[47]
COG2	OTKQH4N4	Strong	Biomarker	[48]
COL9A1	OTWBR27Y	Strong	Biomarker	[28]
COL9A2	OT1ZBDBV	Strong	Biomarker	[28]
COL9A3	OTCUJOEK	Strong	Biomarker	[28]
COMP	OTS2FPMI	Strong	Biomarker	[28]
COX7B	OT67PIDP	Strong	Biomarker	[49]
EXT1	OTRPALJK	Strong	Genetic Variation	[50]
EXT2	OT8IR5QN	Strong	Genetic Variation	[50]
LDLRAP1	OT6QTX7R	Strong	Genetic Variation	[51]
LIPC	OTZY5SC9	Strong	Posttranslational Modification	[52]
MYL12B	OTXMLQOT	Strong	Genetic Variation	[53]
MYL9	OT6B22JB	Strong	Genetic Variation	[53]
PHACTR1	OTAMPX9V	Strong	Genetic Variation	[54]
PLAAT1	OTM3M6P4	Strong	Altered Expression	[55]
PNPLA5	OTZ1GP03	Strong	Genetic Variation	[43]
PRH1	OTQZ6HX0	Strong	Genetic Variation	[56]
SORL1	OTQ8FFNS	Strong	Biomarker	[57]
SRCAP	OT82P6CN	Strong	Genetic Variation	[58]
STAP1	OTUTZH0W	Strong	Biomarker	[3]
TJP2	OTQUY6BV	Strong	Genetic Variation	[41]
TNNT1	OT8PBOAR	Strong	Genetic Variation	[59]
TPM1	OTD73X6R	Strong	Genetic Variation	[60]
APOA5	OTEVKLVA	Definitive	Genetic Variation	[61]
APOC2	OTLINYIQ	Definitive	Altered Expression	[62]
C4BPA	OTHNH6Y8	Definitive	Genetic Variation	[63]
C4BPB	OTJ70B0K	Definitive	Genetic Variation	[63]
CRABP2	OTY01V9G	Definitive	Genetic Variation	[64]
CXCL3	OTSL94KH	Definitive	Altered Expression	[65]
FGB	OT6RKLI9	Definitive	Genetic Variation	[39]
JPH3	OTHTJO2I	Definitive	Biomarker	[16]
LDLR	OTH559LU	Definitive	Semidominant	[35]
MYLIP	OTL0PFGV	Definitive	Genetic Variation	[66]
SACS	OTZGXQ8A	Definitive	Altered Expression	[67]
SCNN1A	OTE2KVZV	Definitive	Genetic Variation	[68]
TRIB1	OTPEO17G	Definitive	Genetic Variation	[69]
------------------------------------------------------------------------------------


⏷ Show the Full List of 43 DOT(s)

References

1	Impact of Cholesterol on Ischemic Stroke in Different Human-Like Hamster Models: A New Animal Model for Ischemic Stroke Study.Cells. 2019 Sep 4;8(9):1028. doi: 10.3390/cells8091028.
2	Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia.Pharmacogenet Genomics. 2016 Jan;26(1):1-11. doi: 10.1097/FPC.0000000000000178.
3	Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.Atherosclerosis. 2020 Jan;292:143-151. doi: 10.1016/j.atherosclerosis.2019.11.025. Epub 2019 Nov 29.
4	Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.Ann Med. 2014 Nov;46(7):464-74. doi: 10.3109/07853890.2014.931100. Epub 2014 Jul 2.
5	Association of killer cell immunoglobulin-like receptor gene 2DL1 and its HLA-C2 ligand with family history of cancer in oral squamous cell carcinoma.Immunogenetics. 2014 Aug;66(7-8):439-48. doi: 10.1007/s00251-014-0778-1. Epub 2014 May 13.
6	ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.J Clin Lipidol. 2017 Nov-Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4.
7	5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia.Atherosclerosis. 2009 Sep;206(1):223-7. doi: 10.1016/j.atherosclerosis.2009.02.019. Epub 2009 Feb 25.
8	ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia.Curr Pharm Des. 2019;25(2):190-200. doi: 10.2174/1381612825666190228000932.
9	Anti-ApoA-1 IgGs in Familial Hypercholesterolemia Display Paradoxical Associations with Lipid Profile and Promote Foam Cell Formation.J Clin Med. 2019 Nov 21;8(12):2035. doi: 10.3390/jcm8122035.
10	Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.J Hum Genet. 2002;47(12):656-64. doi: 10.1007/s100380200101.
11	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.Eur J Hum Genet. 2005 Oct;13(10):1137-42. doi: 10.1038/sj.ejhg.5201467.
12	ApoL1 levels in high density lipoprotein and cardiovascular event presentation in patients with familial hypercholesterolemia.J Lipid Res. 2016 Jun;57(6):1059-73. doi: 10.1194/jlr.P061598. Epub 2016 Apr 25.
13	Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein.J Mol Cell Cardiol. 2011 Nov;51(5):812-20. doi: 10.1016/j.yjmcc.2011.07.026. Epub 2011 Aug 5.
14	Guidance for Pediatric Familial Hypercholesterolemia 2017.J Atheroscler Thromb. 2018 Jun 1;25(6):539-553. doi: 10.5551/jat.CR002. Epub 2018 Feb 6.
15	miR-505-3p controls chemokine receptor up-regulation in macrophages: role in familial hypercholesterolemia.FASEB J. 2018 Feb;32(2):601-612. doi: 10.1096/fj.201700476RR.
16	Atheroprotective reverse cholesterol transport pathway is defective in familial hypercholesterolemia.Arterioscler Thromb Vasc Biol. 2011 Jul;31(7):1675-81. doi: 10.1161/ATVBAHA.111.227181. Epub 2011 Apr 28.
17	Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.J Hum Genet. 2004;49(1):29-34. doi: 10.1007/s10038-003-0103-6. Epub 2003 Dec 13.
18	Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.Am J Med Genet A. 2003 Aug 30;121A(2):136-40. doi: 10.1002/ajmg.a.20172.
19	Genotype of the mutant LDL receptor allele is associated with LDL particle size heterogeneity in familial hypercholesterolemia.Atherosclerosis. 2006 Jan;184(1):163-70. doi: 10.1016/j.atherosclerosis.2005.03.027.
20	Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy.Lipids Health Dis. 2016 Apr 2;15:66. doi: 10.1186/s12944-016-0238-z.
21	Functional characterization of Dictyostelium discoideum mutant myosins equivalent to human familial hypertrophic cardiomyopathy.Adv Exp Med Biol. 1998;453:131-7. doi: 10.1007/978-1-4684-6039-1_16.
22	Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.J Clin Pathol. 2005 May;58(5):479-85. doi: 10.1136/jcp.2004.021642.
23	An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia.Nutr Metab Cardiovasc Dis. 2010 May;20(4):236-42. doi: 10.1016/j.numecd.2009.03.023. Epub 2009 Sep 11.
24	Lipoprotein-associated phospholipase A2 mass and activity in children with heterozygous familial hypercholesterolemia and unaffected siblings: effect of pravastatin.J Clin Lipidol. 2011 Jan-Feb;5(1):50-6. doi: 10.1016/j.jacl.2010.11.001. Epub 2010 Nov 18.
25	Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes.J Mol Cell Cardiol. 2010 May;48(5):834-42. doi: 10.1016/j.yjmcc.2010.01.003. Epub 2010 Jan 15.
26	Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene.Genet Mol Biol. 2018 Jul/Sept.;41(3):570-577. doi: 10.1590/1678-4685-GMB-2016-0287. Epub 2018 Jul 23.
27	POR*28 SNP is associated with lipid response to atorvastatin in children and adolescents with familial hypercholesterolemia.Pharmacogenomics. 2014 Dec;15(16):1963-72. doi: 10.2217/pgs.14.138.
28	Genetic diagnosis of familial hypercholesterolemia in affected relatives using pedigree tracing.Clin Biochem. 1996 Aug;29(4):371-7. doi: 10.1016/0009-9120(96)00017-3.
29	Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy.Circulation. 2008 Apr 8;117(14):1820-31. doi: 10.1161/CIRCULATIONAHA.107.755777. Epub 2008 Mar 24.
30	Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients.Methods Inf Med. 2006;45(2):169-72.
31	ADRB3 gene promoter DNA methylation in blood and visceral adipose tissue isassociated with metabolic disturbances in men.Epigenomics. 2014 Feb;6(1):33-43. doi: 10.2217/epi.13.82.
32	Apolipoprotein H variant modifies plasma triglyceride phenotype in familial hypercholesterolemia: a molecular study in an eight-generation hyperlipidemic family.J Atheroscler Thromb. 2003;10(2):79-84. doi: 10.5551/jat.10.79.
33	Enhanced reduction in oxidative stress and altered glutathione and thioredoxin system response to unsaturated fatty acid load in familial hypercholesterolemia.Clin Biochem. 2014 Dec;47(18):291-7. doi: 10.1016/j.clinbiochem.2014.09.006. Epub 2014 Sep 15.
34	Probucol promotes reverse cholesterol transport in heterozygous familial hypercholesterolemia. Effects on apolipoprotein AI-containing lipoprotein particles.Atherosclerosis. 2000 Oct;152(2):433-40. doi: 10.1016/s0021-9150(99)00493-1.
35	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
36	Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells.Biochim Biophys Acta. 2004 Jul 5;1683(1-3):89-100. doi: 10.1016/j.bbalip.2004.04.009.
37	Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
38	The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.
39	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia.Clin Chem Lab Med. 2006;44(7):799-806. doi: 10.1515/CCLM.2006.150.
40	The development and first results of a health-related outcomes set in familial hypercholesterolemia (FH) patients: Knowledge is health.Atherosclerosis. 2020 Jan;293:11-17. doi: 10.1016/j.atherosclerosis.2019.11.030. Epub 2019 Nov 30.
41	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. doi: 10.1038/ng1147.
42	Familial hypercholesterolemia treatments: Guidelines and new therapies.Atherosclerosis. 2018 Oct;277:483-492. doi: 10.1016/j.atherosclerosis.2018.06.859.
43	Genes Potentially Associated with Familial Hypercholesterolemia.Biomolecules. 2019 Nov 29;9(12):807. doi: 10.3390/biom9120807.
44	Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype.Circ J. 2019 Aug 23;83(9):1917-1924. doi: 10.1253/circj.CJ-19-0317. Epub 2019 Jul 20.
45	Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. doi: 10.1172/JCI6460.
46	Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.J Clin Lipidol. 2018 Jan-Feb;12(1):145-151. doi: 10.1016/j.jacl.2017.10.014. Epub 2017 Oct 27.
47	Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.Clin Chem. 2015 Jan;61(1):231-8. doi: 10.1373/clinchem.2014.231365. Epub 2014 Nov 20.
48	LDL apheresis in Japan.Transfus Apher Sci. 2017 Oct;56(5):677-681. doi: 10.1016/j.transci.2017.08.014. Epub 2017 Aug 31.
49	Cytochrome c oxidase subunit VIIb as a potential target in familial hypercholesterolemia by bioinformatical analysis.Eur Rev Med Pharmacol Sci. 2015 Nov;19(21):4139-45.
50	Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.J Lipid Res. 2015 Mar;56(3):665-673. doi: 10.1194/jlr.M053504. Epub 2015 Jan 7.
51	A review of gene- and cell-based therapies for familial hypercholesterolemia.Pharmacol Res. 2019 May;143:119-132. doi: 10.1016/j.phrs.2019.03.016. Epub 2019 Mar 22.
52	Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia.Epigenetics. 2014 May;9(5):718-29. doi: 10.4161/epi.27981. Epub 2014 Feb 6.
53	In vitro rescue study of a malignant familial hypertrophic cardiomyopathy phenotype by pseudo-phosphorylation of myosin regulatory light chain.Arch Biochem Biophys. 2014 Jun 15;552-553:29-39. doi: 10.1016/j.abb.2013.12.011. Epub 2013 Dec 26.
54	PHACTR1 genotype predicts coronary artery disease in patients with familial hypercholesterolemia.J Clin Lipidol. 2018 Jul-Aug;12(4):966-971. doi: 10.1016/j.jacl.2018.04.012. Epub 2018 Apr 30.
55	Lipoprotein-associated phospholipase A?activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hypercholesterolemia.Nutr Metab Cardiovasc Dis. 2018 May;28(5):517-523. doi: 10.1016/j.numecd.2018.01.012. Epub 2018 Feb 2.
56	Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.J Mol Biol. 1999 Feb 26;286(3):933-49. doi: 10.1006/jmbi.1998.2522.
57	Soluble LR11 associates with aortic root calcification in asymptomatic treated male patients with familial hypercholesterolemia.Atherosclerosis. 2017 Oct;265:299-304. doi: 10.1016/j.atherosclerosis.2017.06.018. Epub 2017 Jun 9.
58	Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.
59	Epigenetic and genetic variations at the TNNT1 gene locus are associated with HDL-C levels and coronary artery disease.Epigenomics. 2016 Mar;8(3):359-71. doi: 10.2217/epi.15.120. Epub 2016 Mar 7.
60	Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin.Biochemistry. 2012 Aug 14;51(32):6413-20. doi: 10.1021/bi3006835. Epub 2012 Aug 1.
61	Polymorphisms in apolipoprotein E and apolipoprotein A-V do not influence the lipid response to rosuvastatin but are associated with baseline lipid levels in Chinese patients with hyperlipidemia.J Clin Lipidol. 2012 Nov-Dec;6(6):585-92. doi: 10.1016/j.jacl.2012.02.005. Epub 2012 Feb 18.
62	The molecular genetics of pediatric lipid disorders: recent progress and future research directions.Pediatr Res. 1993 Oct;34(4):403-15. doi: 10.1203/00006450-199310000-00005.
63	Effects of LDL-apheresis on serum lipoprotein (a), C4b binding protein, protein C, protein S, and complement components.J Atheroscler Thromb. 1994;1(2):103-7. doi: 10.5551/jat1994.1.103.
64	Association of a polymorphism in the promoter of the cellular retinoic acid-binding protein II gene (CRABP2) with increased circulating low-density lipoprotein cholesterol.Clin Chem Lab Med. 2007;45(5):615-20. doi: 10.1515/CCLM.2007.131.
65	Overexpression of the CXCL3 gene in response to oxidized low-density lipoprotein is associated with the presence of tendon xanthomas in familial hypercholesterolemia.Biochem Cell Biol. 2009 Jun;87(3):493-8. doi: 10.1139/o09-006.
66	The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia.Pharmacogenet Genomics. 2014 Nov;24(11):548-55. doi: 10.1097/FPC.0000000000000089.
67	Human genetics: lessons from Quebec populations.Annu Rev Genomics Hum Genet. 2001;2:69-101. doi: 10.1146/annurev.genom.2.1.69.
68	Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients.Genet Test. 2006 Fall;10(3):192-9. doi: 10.1089/gte.2006.10.192.
69	Polymorphism at the TRIB1 gene modulates plasma lipid levels: insight from the Spanish familial hypercholesterolemia cohort study.Nutr Metab Cardiovasc Dis. 2011 Dec;21(12):957-63. doi: 10.1016/j.numecd.2010.04.002. Epub 2010 Aug 6.